Angelman syndrome is due to the lack of function and ability in chromosome number 15. It is a neurological disorder that causes developmental delays. Symptoms starting from 6-12 months. AS is also known has the "Happy Puppet Syndrome" because of the happy demeanor. This video explains the basics of AS and shows people afflicted with it in homes, outside and with others.
Signs and Symptoms: Symptoms of the disease include wide mouth, a happy demeanor, hands with tapered fingers, and broad thumbs. Signs that the disease is present begin to show at age 1 or as early as 6 months. Children with the disorder will show developmental delays and might be able to walk or speak by age 2 or 3. At ages 2 and 3 seizures may begin to occur. As the child ages noticeable severe mental delays will appear. Balance with standing might also be a sign. Also, Angelman syndrome children will have learning disabilities. Genetics: Most cases of Angelman Syndrome are not hereditary, it isn't passed on through families, and is a result of a piece of chromosome 15 given by the mother gets deleted. Distribution: Angelman syndrome affects both males and females. Angelman syndrome is estimated to affect approximately 1 in 12,000-20,000 people in the general population world wide. However many cases are undiagnosed making the exact number hard to pinpoint. Also AS is a very rare disease making it harder to track, there is no specific ethnic group or region of the world where this syndrome is most common. Management and Treatment: There is no cure for AS but current treatment focuses on managing the medical and developmental issues. Medications for seizures can be taken and physical therapy can help improve walking movements . Behavior therapy can help improve attention span help overcome hyperactivity and aid in development. Miscellaneous: Angelman Syndrome shares a similar genetic pattern as some forms of autism. It's often misdiagnosed with autism or cerebral palsy. AS doesn't have just one name, it's also mentioned as "Happy Puppet Syndrome" because of the cheerful and sunny attitude of the child afflicted with it. Society and Culture: AS is commonly lacked in awareness; it goes misdiagnosed a lot of the times. A person affected with it may have difficulty as a child, but can eventually lead a seemingly normal life when growing older, as demonstrated by Pro Baseball player Dave Henderson and Hockey player Peter McDuffe. As for how the diseases is viewed by others, people with Angelman syndrome are treated with great care. Foundations will have funds and donations that many people contribute to, helping the research for the disorder and certainly helping people affected by the disorder. Further Research: https://www.angelman.org/
This family has a daughter with Angelman syndrome. They talk about their experiences, stories, problems and solutions they have gone through with their daughter.
Here, the diagram is pointing out the physical features of one who has Angelman Syndrome.
Angelman syndrome is due to the lack of function and ability in chromosome number 15. It is a neurological disorder that causes developmental delays. Symptoms starting from 6-12 months. AS is also known has the "Happy Puppet Syndrome" because of the happy demeanor.
This video explains the basics of AS and shows people afflicted with it in homes, outside and with others.
Signs and Symptoms:
Symptoms of the disease include wide mouth, a happy demeanor, hands with tapered fingers, and broad thumbs. Signs that the disease is present begin to show at age 1 or as early as 6 months. Children with the disorder will show developmental delays and might be able to walk or speak by age 2 or 3. At ages 2 and 3 seizures may begin to occur. As the child ages noticeable severe mental delays will appear. Balance with standing might also be a sign. Also, Angelman syndrome children will have learning disabilities.
Genetics:
Most cases of Angelman Syndrome are not hereditary, it isn't passed on through families, and is a result of a piece of chromosome 15 given by the mother gets deleted.
Distribution:
Angelman syndrome affects both males and females. Angelman syndrome is estimated to affect approximately 1 in 12,000-20,000 people in the general population world wide. However many cases are undiagnosed making the exact number hard to pinpoint. Also AS is a very rare disease making it harder to track, there is no specific ethnic group or region of the world where this syndrome is most common.
Management and Treatment:
There is no cure for AS but current treatment focuses on managing the medical and developmental issues. Medications for seizures can be taken and physical therapy can help improve walking movements . Behavior therapy can help improve attention span help overcome hyperactivity and aid in development.
Miscellaneous:
Angelman Syndrome shares a similar genetic pattern as some forms of autism. It's often misdiagnosed with autism or cerebral palsy. AS doesn't have just one name, it's also mentioned as "Happy Puppet Syndrome" because of the cheerful and sunny attitude of the child afflicted with it.
Society and Culture:
AS is commonly lacked in awareness; it goes misdiagnosed a lot of the times. A person affected with it may have difficulty as a child, but can eventually lead a seemingly normal life when growing older, as demonstrated by Pro Baseball player Dave Henderson and Hockey player Peter McDuffe. As for how the diseases is viewed by others, people with Angelman syndrome are treated with great care. Foundations will have funds and donations that many people contribute to, helping the research for the disorder and certainly helping people affected by the disorder.
Further Research:
https://www.angelman.org/
This family has a daughter with Angelman syndrome. They talk about their experiences, stories, problems and solutions they have gone through with their daughter.
Here, the diagram is pointing out the physical features of one who has Angelman Syndrome.
References:
https://ghr.nlm.nih.gov/condition/angelman-syndrome
https://www.spectrumnews.org/wiki/angelman-syndrome/
https://www.angelman.org/what-is-as/
https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/angelman-syndrome
https://www.primehealthchannel.com/angelman-syndrome-symptoms-pictures-causes-life-expectancy-and-treatment.html